A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural disturbances. In the present work, we report the...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
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| Hōputu: | Artigo |
| Reo: | Espanhol |
| I whakaputaina: |
Universidad de Santander
2016-07-01
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| Rangatū: | Innovaciencia |
| Ngā marau: | |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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